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rs267606930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606930(A;A)
Make rs267606930(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position41853435
GeneOXCT1
is asnp
is mentioned by
dbSNPrs267606930
ebirs267606930
HLIrs267606930
Exacrs267606930
Varsomers267606930
Maprs267606930
PheGenIrs267606930
hapmaprs267606930
1000 genomesrs267606930
hgdprs267606930
ensemblrs267606930
gopubmedrs267606930
geneviewrs267606930
scholarrs267606930
googlers267606930
pharmgkbrs267606930
gwascentralrs267606930
openSNPrs267606930
23andMers267606930
23andMe allrs267606930
SNP Nexus

SNPshotrs267606930
SNPdbers267606930
MSV3drs267606930
GWAS Ctlgrs267606930
Max Magnitude0
ClinVar
Risk rs267606930(A;A)
Alt rs267606930(A;A)
Reference rs267606930(T;T)
Significance Pathogenic
Disease Succinyl-CoA acetoacetate transferase deficiency
Variation info
Gene OXCT1
CLNDBN Succinyl-CoA acetoacetate transferase deficiency
Reversed 1
HGVS NC_000005.9:g.41853537A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008643.3,